Links from Gene
Items: 1 to 20 of 15468
1.
rs1491583109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAG,AAGGAAG,AAGGAAGGAAG,AAGGAAGGAAGGAAG
[Show Flanks]
- Chromosome:
- 17:35530429
(GRCh38)
17:33857449
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35530429:G:GAAG,NC_000017.11:35530429:G:GAAGGAAG,NC_000017.11:35530429:G:GAAGGAAGGAAG,NC_000017.11:35530429:G:GAAGGAAGGAAGGAAG
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGGAAG=0./0
(
ALFA)
GAA=0.00181/12
(TOMMO)
GAA=0.01064/2
(NorthernSweden)
...more- HGVS:
4.
rs1491530598 has merged into rs758831720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 17:35474697
(GRCh38)
17:33801716
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGGG
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGGG=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.35474697_35474698del, NC_000017.11:g.35474698del, NC_000017.11:g.35474698dup, NC_000017.11:g.35474697_35474698dup, NC_000017.11:g.35474696_35474698dup, NC_000017.11:g.35474695_35474698dup, NC_000017.10:g.33801716_33801717del, NC_000017.10:g.33801717del, NC_000017.10:g.33801717dup, NC_000017.10:g.33801716_33801717dup, NC_000017.10:g.33801715_33801717dup, NC_000017.10:g.33801714_33801717dup, NM_001195790.3:c.*234_*235del, NM_001195790.3:c.*235del, NM_001195790.3:c.*235dup, NM_001195790.3:c.*234_*235dup, NM_001195790.3:c.*233_*235dup, NM_001195790.3:c.*232_*235dup, NM_001363830.2:c.*234_*235del, NM_001363830.2:c.*235del, NM_001363830.2:c.*235dup, NM_001363830.2:c.*234_*235dup, NM_001363830.2:c.*233_*235dup, NM_001363830.2:c.*232_*235dup ...more
5.
rs1491527639 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAAAAGAAAAGAAAAGGAAA,AGAAAAGGAAA,AGGAAA
[Show Flanks]
- Chromosome:
- 17:35530541
(GRCh38)
17:33857561
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35530541:GAAA:GAAAAGAAAAGAAAAGAAAAGGAAA,NC_000017.11:35530541:GAAA:GAAAAGAAAAGGAAA,NC_000017.11:35530541:GAAA:GAAAAGGAAA
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAAGAAAAGGAAA=0./0
(
ALFA)
GAAAAGAAAAG=0.000004/1
(TOPMED)
GAAAAG=0.000539/12
(GnomAD)
...more- HGVS:
6.
rs1491510310 has merged into rs1298157446 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 17:35494891
(GRCh38)
17:33821910
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35494888:TTTT:TT,NC_000017.11:35494888:TTTT:TTT,NC_000017.11:35494888:TTTT:TTTTT,NC_000017.11:35494888:TTTT:TTTTTTTT,NC_000017.11:35494888:TTTT:TTTTTTTTT
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
7.
rs1491491029 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AA,AAA,AAAGAA,AAAGAAAGAA
[Show Flanks]
- Chromosome:
- 17:35530434
(GRCh38)
17:33857454
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35530434::AA,NC_000017.11:35530434::AAA,NC_000017.11:35530434::AAAGAA,NC_000017.11:35530434::AAAGAAAGAA
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAGAA=0./0
(
ALFA)
AA=0.00796/60
(TOMMO)
- HGVS:
8.
rs1491481763 has merged into rs34262146 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 17:35510844
(GRCh38)
17:33837863
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.35510844_35510846del, NC_000017.11:g.35510845_35510846del, NC_000017.11:g.35510846del, NC_000017.11:g.35510846dup, NC_000017.11:g.35510845_35510846dup, NC_000017.11:g.35510844_35510846dup, NC_000017.11:g.35510843_35510846dup, NC_000017.11:g.35510842_35510846dup, NC_000017.10:g.33837863_33837865del, NC_000017.10:g.33837864_33837865del, NC_000017.10:g.33837865del, NC_000017.10:g.33837865dup, NC_000017.10:g.33837864_33837865dup, NC_000017.10:g.33837863_33837865dup, NC_000017.10:g.33837862_33837865dup, NC_000017.10:g.33837861_33837865dup ...more
9.
rs1491464758 has merged into rs758831720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 17:35474697
(GRCh38)
17:33801716
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGGG
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGGG=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.35474697_35474698del, NC_000017.11:g.35474698del, NC_000017.11:g.35474698dup, NC_000017.11:g.35474697_35474698dup, NC_000017.11:g.35474696_35474698dup, NC_000017.11:g.35474695_35474698dup, NC_000017.10:g.33801716_33801717del, NC_000017.10:g.33801717del, NC_000017.10:g.33801717dup, NC_000017.10:g.33801716_33801717dup, NC_000017.10:g.33801715_33801717dup, NC_000017.10:g.33801714_33801717dup, NM_001195790.3:c.*234_*235del, NM_001195790.3:c.*235del, NM_001195790.3:c.*235dup, NM_001195790.3:c.*234_*235dup, NM_001195790.3:c.*233_*235dup, NM_001195790.3:c.*232_*235dup, NM_001363830.2:c.*234_*235del, NM_001363830.2:c.*235del, NM_001363830.2:c.*235dup, NM_001363830.2:c.*234_*235dup, NM_001363830.2:c.*233_*235dup, NM_001363830.2:c.*232_*235dup ...more
12.
rs1491379047 has merged into rs11323761 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:35532451
(GRCh38)
17:33859470
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.25/10
(GENOME_DK)
A=0.3417/341
(GoNL)
A=0.4028/2017
(1000Genomes)
...more- HGVS:
NC_000017.11:g.35532451_35532456del, NC_000017.11:g.35532453_35532456del, NC_000017.11:g.35532454_35532456del, NC_000017.11:g.35532455_35532456del, NC_000017.11:g.35532456del, NC_000017.11:g.35532456dup, NC_000017.11:g.35532455_35532456dup, NC_000017.11:g.35532451_35532456dup, NC_000017.11:g.35532450_35532456dup, NC_000017.10:g.33859470_33859475del, NC_000017.10:g.33859472_33859475del, NC_000017.10:g.33859473_33859475del, NC_000017.10:g.33859474_33859475del, NC_000017.10:g.33859475del, NC_000017.10:g.33859475dup, NC_000017.10:g.33859474_33859475dup, NC_000017.10:g.33859470_33859475dup, NC_000017.10:g.33859469_33859475dup ...more
13.
rs1491365081 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAAGGAA
[Show Flanks]
- Chromosome:
- 17:35476465
(GRCh38)
17:33803485
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35476465:GAAGGAA:GAAGGAAAGAAGGAA
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAAGGAAAGAAGGAA=0.00101/12
(
ALFA)
- HGVS:
14.
rs1491329735 has merged into rs58553128 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 17:35495920
(GRCh38)
17:33822939
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACA=0./0
(
ALFA)
ACACAC=0.2282/1143
(1000Genomes)
ACACACAC=0.5/20
(GENOME_DK)
...more- HGVS:
NC_000017.11:g.35495902CA[9], NC_000017.11:g.35495902CA[10], NC_000017.11:g.35495902CA[11], NC_000017.11:g.35495902CA[12], NC_000017.11:g.35495902CA[13], NC_000017.11:g.35495902CA[14], NC_000017.11:g.35495902CA[15], NC_000017.11:g.35495902CA[16], NC_000017.11:g.35495902CA[17], NC_000017.11:g.35495902CA[18], NC_000017.11:g.35495902CA[19], NC_000017.11:g.35495902CA[20], NC_000017.11:g.35495902CA[21], NC_000017.11:g.35495902CA[22], NC_000017.11:g.35495902CA[24], NC_000017.11:g.35495902CA[25], NC_000017.11:g.35495902CA[26], NC_000017.11:g.35495902CA[27], NC_000017.11:g.35495902CA[28], NC_000017.11:g.35495902CA[29], NC_000017.11:g.35495902CA[30], NC_000017.10:g.33822921CA[9], NC_000017.10:g.33822921CA[10], NC_000017.10:g.33822921CA[11], NC_000017.10:g.33822921CA[12], NC_000017.10:g.33822921CA[13], NC_000017.10:g.33822921CA[14], NC_000017.10:g.33822921CA[15], NC_000017.10:g.33822921CA[16], NC_000017.10:g.33822921CA[17], NC_000017.10:g.33822921CA[18], NC_000017.10:g.33822921CA[19], NC_000017.10:g.33822921CA[20], NC_000017.10:g.33822921CA[21], NC_000017.10:g.33822921CA[22], NC_000017.10:g.33822921CA[24], NC_000017.10:g.33822921CA[25], NC_000017.10:g.33822921CA[26], NC_000017.10:g.33822921CA[27], NC_000017.10:g.33822921CA[28], NC_000017.10:g.33822921CA[29], NC_000017.10:g.33822921CA[30] ...more
16.
rs1491246466 has merged into rs745926001 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA,CACACACA
[Show Flanks]
- Chromosome:
- 17:35492980
(GRCh38)
17:33819999
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35492968:ACACACACACACACA:ACACACACACA,NC_000017.11:35492968:ACACACACACACACA:ACACACACACACA,NC_000017.11:35492968:ACACACACACACACA:ACACACACACACACACA,NC_000017.11:35492968:ACACACACACACACA:ACACACACACACACACACA
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
AC=0.00006/16
(TOPMED)
-=0.04904/189
(ALSPAC)
AC=0.357715/357
(GoNL)
...more- HGVS:
NC_000017.11:g.35492970CA[5], NC_000017.11:g.35492970CA[6], NC_000017.11:g.35492970CA[8], NC_000017.11:g.35492970CA[9], NC_000017.10:g.33819989CA[5], NC_000017.10:g.33819989CA[6], NC_000017.10:g.33819989CA[8], NC_000017.10:g.33819989CA[9], NG_005634.5:g.3039CA[5], NG_005634.5:g.3039CA[6], NG_005634.5:g.3039CA[8], NG_005634.5:g.3039CA[9] ...more
20.
rs1491137230 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 17:35530542
(GRCh38)
17:33857561
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35530540:AGA:A
- Gene:
- SLFN12L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: